Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

Autoinflammatory Disease Clinical Trial

— IPHYGENI MAI  

Official title:

Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06354322
• Other study ID #: APHP230630
• Status: Not yet recruiting
• Start date: May 2024
• Est. completion date: May 2034

Study information

• Verified date: April 2024
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Sophie GEORGIN-LAVIALLE, Professor
• Phone: 00 33 1 56 01 72 04
• Email: sophie.georgin-lavialle[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.

However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.

genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.

Description:

The study aim to explore variants of undetermined significance in major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.

National multicenter research: internal medicine department of Tenon Hospital, pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris

Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse.

The total volume of the sample will be 24 mL per 6 month period maximum, and will not exceed In case of skin involvement of the auto-inflammatory disease, a skin biopsy may be performed as part of the patient's follow-up care.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 200
• Est. completion date: May 2034
• Est. primary completion date: June 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years to 80 Years

Eligibility

Inclusion Criteria:

Inclusion criteria for patients to be studied:

• Patients over 18 years of age with the capacity to give express free and informed consent and;

• Minor patients under 18 years of age with both parents or legal guardians giving consent;

• Patients with unclassified IAD or AA amyloidosis of undetermined etiology;

• Patients followed in one of the study departments;

• Patients weighing more than 15 kg.

Inclusion criteria for control patients:

• Patients over 18 years of age with the capacity to give free and informed express consent;

• Patients with IAD classified with well-defined international criteria or ;

• Patients who have undergone cosmetic surgery or blood donors).

Exclusion Criteria:

• Patients unable to give express free and informed consent;

• Subjects under guardianship, curatorship or safeguard of justice;

• Subjects who do not speak French;

• Subjects unable to answer questions or express themselves;

• Patients weighing less than 15 kg;

• Patients without social security coverage

Related Conditions & MeSH terms

• AA Amyloidosis
• Amyloidosis
• Autoinflammatory Disease

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Exploration of VUS in AutoInflammatory Diseases	To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.	Up to 4 years
Secondary	Pathophysiology of Autoinflammatory Diseases	To improve the knowledge on the pathophysiology of Autoinflammatory Diseases: to determine the role of new inflammation pathways in AutoInflammatory Diseases	Up to 4 years
Secondary	Role of other innate immune cells in AutoInflammatory Diseases	Evaluate the role of other innate immune cells (neutrophils, mast cells...) and their mediators	Up to 4 years
Secondary	Improve knowledge of AA amyloidosis	Improve knowledge of AA amyloidosis, a complication of autoinflammatory diseases	Up to 4 years